Results 81 to 90 of about 19,473 (244)
A retrospective analysis of 38,652 amniotic fluid karyotype
Frontiers in GeneticsBackgroundChromosomal karyotype analysis remains a classical and frontline method in prenatal diagnosis, capable of detecting balanced chromosomal abnormalities and providing insights distinct from high‐resolution molecular techniques such as CMA and CNV‐
Jianyu Ren +6 more
doaj +1 more source
Journal of Fetal Medicine, 2016 AbstractAmniocentesis is the most common invasive prenatal diagnostic procedure worldwide. It is a technique of withdrawing amniotic fluid from the uterine cavity using a needle, via a transabdominal approach, under continuous ultrasound guidance, in order to obtain a sample of fetal exfoliated cells, transudates, urine, or secretions.
Nandita Dimri, Ashok Baijal
openaire +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly +3 more
wiley +1 more source
Amniocentesis in the third trimester of pregnancy
, 2007 Background: Amniocentesis in the third trimester, which reduces risks of procedure-related miscarriage but still allows termination of affected fetuses, may be applicable in some pregnancies.
Pontello, Valentina +4 more
core +1 more source
DiagnosticsBackground/Objective: Prenatal cytogenetic testing is essential for pregnant women who are at high risk of having a child with a chromosomal abnormality.
Abdullatif Bakır +5 more
doaj +1 more source
Discrepancy of Cytogenetic Analysis in Western and Eastern Taiwan
Pediatrics and Neonatology, 2013 This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies.
Yu-Hsun Chang +6 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang +6 more
wiley +1 more source
Fetal loss rates after mid-trimester amniocentesis
, 2010 Objective: Amniocentesis is an invasive cytogenic test traditionally associated with a 1/200 procedure–related pregnancy loss rate. Recent studies have questioned the validity of the traditionally stated rate.
Mehmet Ibrahim Harma +4 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1372-1377, June 2026.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source